基因名:
DSG1
产品别名:
CDHF4; DG1; DSG; EPKHE; EPKHIA; PPKS1; SPPK1; DSG1; desmoglein 1; desmoglein 1; desmoglein-1; cadherin family member 4; desmosomal glycoprotein 1; pemphigus foliaceus antigen; 桥粒芯糖蛋白1; 桥粒芯糖蛋白1(DSG1);
背景信息:
Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.Defects in DSG1 are the cause of palmoplantar keratoderma striate type 1 (SPPK1) [MIM:148700]; also known as keratosis palmoplantaris striata I. SPPK1 is a dermatoligical disorder characterized by thickening of the skin on the palms and soles, and longitudinal hyperkeratotic lesions on the palms, running the length of each finger.